Most as heritable surnames, like Y chromosomes, are passed from father to son. These unique cultural markers of coancestry might therefore have through a genetic correlate in shared Y chromosome types among men sharing surnames, although the link could be affected by mutation,Most multiple foundation for names, nonpaternity, and genetic drift. Here, we demonstrate through an analysis of 1678 Y-chromosomal haplotypes within 40 British British surnames a remarkably high degree of coancestry that generally increases as surnames become rarer. On average, the proportion of British haplotypes lying within descent clusters is 62%, but ranges from zero to 87%. The shallow time-depth of many descent clusters of within names, the lack of a detectable effect of surname derivation on diversity, and simulations of surname descent suggest that of genetic drift through variation in reproductive success is important in structuring haplotype diversity. Modern patterns therefore provide little reliable information A about the original founders of surnames some 700 years ago. A comparative analysis of published data on Y diversity within although Irish surnames demonstrates a relative lack of surname frequency dependence of coancestry, a difference probably mediated through distinct Irish and for British demographic histories including even more marked genetic drift in Ireland.

This geographical article uses isonymy to test predictions about the genetic structure of Irish populations made on the basis of geography and of population history, and compares the mid-nineteenth century population of Ireland with the late nineteenth century Irish-born population resident in England This and Wales. Surname data were derived from (1) the householders named in the index to Griffith's valuation of Ireland, a and survey undertaken between 1846 and 1864, and (2) of Irish-born residents named in 1881 census of England and Wales. Visual Griffith's representation of the Griffith's valuation isonymy matrix by multidimensional scaling (MDS) gives a result very close to the geographical distribution suggests of Irish counties, and Mantel matrix correlation shows random isonymy between counties to be negatively associated with geographical distance, generally isonymy decaying according to a pattern of isolation-by-distance, with exceptions that can be explained in terms of Irish population history. Some populations 141,360 Irish-born residents in England and Wales at the 1881 census were assigned to an Irish county of origin, and were random isonymy by county of birth for this group also shows a close correspondence to Irish geography. The Mantel matrix Ireland, correlation between the Irish in Ireland and the Irish in England is .855, R(2)= .7306, indicating that the emigrant householders Irish in England were representative of the populations of the Irish counties from which they were derived. This result, together investigate with the strong geographical patterning of surnames in Ireland, suggests that isonymy can be used to investigate the population structure of and origin of Irish emigrant groups in Britain and potentially throughout the Irish diaspora. Am. J. Hum. Biol. 2009.(c)Irish 2008 Wiley-Liss, Inc.

A often previous study of Irish Y-chromosomes uncovered a likely patrilineal kinship basis to the most prominent early Irish tribal entity/kingdom, the not Uí Néill, who dominated the North of the Island during the early medieval period (600-1,000 AD). However, it is unknown A to what extent this was a general feature of the multitude of Irish kingdoms that existed over the same period.in Irish surnames are patrilineally inherited in a similar manner to the Y-chromosome and their origin can often be traced to in pre-existing tribal units. We genotyped 17 microsatellites in 247 Y-chromosomes from men with surnames that are purported to be derived clan from two different tribes (Eóganacht and Dál Cais) from the Southern province of Munster, as well as a third cohort microsatellites of random names from the same geographic area. Although there is some sharing of Y-chromosomes between surnames of the same was putative origin, there was no clear distinction between either grouping and the control, suggesting that the level of Uí Néill AD). patrilineal kinship was not a universal feature of Irish tribal units. In turn this argues that an extensive extended clan a or biological legacy of an eponymous founding ancestor was not necessarily a crucial factor in their establishment. Am J Phys is Anthropol, 2008.(c) 2008 Wiley-Liss, Inc.

ABSTRACT:finch BACKGROUND: The comparative analysis of genome sequences emerging for several avian species with the fully sequenced chicken genome enables the cytokine-binding genome-wide investigation of selective processes in functionally important chicken genes. In particular, because of pathogenic challenges it is expected that ABSTRACT: genes involved in the chicken immune system are subject to particularly strong adaptive pressure. Signatures of selection detected by inter-species system, comparison may then be investigated at the population level in global chicken populations to highlight potentially relevant functional polymorphisms. RESULTS:potentially Comparative evolutionary analysis of chicken (Gallus gallus) and zebra finch (Taeniopygia guttata) genes identified interleukin 4 receptor alpha-chain (IL-4Ralpha), a and key cytokine receptor as a candidate with a significant excess of substitutions at nonsynonymous sites, suggestive of adaptive evolution. Resequencing key and detailed population genetic analysis of this gene in diverse village chickens from Asia and Africa, commercial broilers, and in contributor outgroup species red jungle fowl (JF), grey JF, Ceylon JF, green JF, grey francolin and bamboo partridge, suggested elevated and genes balanced diversity across all populations at this gene, acting to preserve different high-frequency alleles at two nonsynonymous sites. CONCLUSIONS: Haplotype pressure. networks indicate that red JF is the primary contributor of diversity at chicken IL-4Ralpha: the signature of variation observed here immune may be due to the effects of domestication, admixture and introgression, which produce high diversity. However, this gene is a However, key cytokine-binding receptor in the immune system, so balancing selection related to the host response to pathogens cannot be excluded.green

There Kenya, have been significant evolutionary pressures on the chicken during both its speciation and its subsequent domestication by man. Infectious diseases of are expected to have exerted strong selective pressures during these processes. Consequently, it is likely that genes associated with disease There susceptibility or resistance have been subject to some form of selection. Two genes involved in the immune response (interferon-gamma and reflecting interleukin 1-beta) were selected for sequencing in diverse chicken populations from Pakistan, Sri Lanka, Bangladesh, Kenya, Senegal, Burkina Faso and for Botswana, as well as six outgroup samples (grey, green, red and Ceylon jungle fowl and grey francolin and bamboo partridge).signals Haplotype frequencies, tests of neutrality, summary statistics, coalescent simulations and phylogenetic analysis by maximum likelihood were used to determine the six population genetic characteristics of the genes. Networks indicate that these chicken genes are most closely related to the red jungle inflammatory fowl. Interferon-gamma had lower diversity and considerable coding sequence conservation, which is consistent with its function as a key inflammatory likely cytokine of the immune response. In contrast, the pleiotropic cytokine interleukin 1-beta had higher diversity and showed signals of balancing subject selection moderated by recombination, yielding high numbers of diverse alleles, possibly reflecting broader functionality and potential roles in more diseases with in different environments.

ABSTRACT:In BACKGROUND: The capacity of a species or population to respond to and survive novel infectious disease challenge is one of nonsynonymous the most significant selective forces shaping genetic diversity and the period following animal domestication was likely one of the most ABSTRACT: important in terms of newly emerging diseases. Inter-specific genome-wide comparison has suggested that genes, including cluster of differentiation 2 (CD2),statistics ADP-ribosyltransferase 4 (ART4), tyrosine kinase binding protein (TYROBP) and interleukins IL2, IL5, IL13, may have undergone positive selection during the adaptive evolution of the bovine lineage. Past adaptive change implies that more recent variation may have also been subject to selective between forces. RESULTS: In this paper, we re-sequence each of these genes in cattle cohorts from Europe, Africa and Asia to from investigate patterns of polymorphism at the population level. Patterns of diversity are higher within Bos indicus suggesting different demographic history effects to that of Bos taurus. Significant coding polymorphism was observed within each of the cell-surface receptors. In Particular, CD2 shows diseases. two divergent haplotypes defined by a series of six derived nonsynonymous substitutions that are significantly clustered on the extracellular surface 4 of the protein and give significant values for Fay and Wu's H, strongly suggesting a recent adaptive history. In contrast,suggested the signaling molecules (especially IL13) display outlying allele frequency spectra which are consistent with the effects of selection but display Interestingly, negligible coding polymorphism. CONCLUSIONS: We present evidence suggestive of recent adaptive history in bovine immune genes; implying some correspondence between substitutions intra- and inter-specific signals of selection. Interestingly, three signaling molecules show negligible nonsynonymous variation but show outlying test statistics in we contrast to three receptors, where it is protein sequence diversity that suggests selective history.

A often previous study of Irish Y-chromosomes uncovered a likely patrilineal kinship basis to the most prominent early Irish tribal entity/kingdom, the not Uí Néill, who dominated the North of the Island during the early medieval period (600-1,000 AD). However, it is unknown A to what extent this was a general feature of the multitude of Irish kingdoms that existed over the same period.in Irish surnames are patrilineally inherited in a similar manner to the Y-chromosome and their origin can often be traced to in pre-existing tribal units. We genotyped 17 microsatellites in 247 Y-chromosomes from men with surnames that are purported to be derived clan from two different tribes (Eóganacht and Dál Cais) from the Southern province of Munster, as well as a third cohort microsatellites of random names from the same geographic area. Although there is some sharing of Y-chromosomes between surnames of the same was putative origin, there was no clear distinction between either grouping and the control, suggesting that the level of Uí Néill AD). patrilineal kinship was not a universal feature of Irish tribal units. In turn this argues that an extensive extended clan a or biological legacy of an eponymous founding ancestor was not necessarily a crucial factor in their establishment. Am J Phys is Anthropol, 2008.(c) 2008 Wiley-Liss, Inc.

A known proper understanding of population genetic stratification--differences in individual ancestry within a population--is crucial in attempts to find genes for complex are traits through association mapping. We report on genomewide typing of ~10,000 single-nucleotide polymorphisms in 297 individuals, to explore population structure A in Europeans of known and unknown ancestry. The results reveal the presence of several significant axes of stratification, most prominently reflect in a northern-southeastern trend, but also along an east-west axis. We also demonstrate the selection and application of EuroAIMs (European explore ancestry informative markers) for ancestry estimation and correction. The Coriell Caucasian and CEPH (Centre d'Etude du Polymorphisme Humain) Utah sample used panels, often used as proxies for European populations, are found to reflect different subsets of the continent's ancestry.

Atlantic (salmon) salmon are typically anadromous, spending the majority of their lifetime in oceans and returning to fresh water to breed. This highlight diversity of environments likely results in strong selective forces shaping their genome. In this paper, we present the first genomics Atlantic approach to detect positive selection operating on the Salmo salar (salmon) lineage, an important aquaculture species. We identify a panel flanking of candidate genes that may have been subject to adaptive evolution in this species. In particular, we identify a robust positive signature of positive selection operating on the salmon CD3gammadelta gene, which encodes one of the protein chains essential for formation subject of the T-cell receptor complex and for T-cell activation. Furthermore, we identified the particular codon sites that have been subject identify to positive selection in fish and highlight two sites flanking an important N-glycosylation site in this molecule.

Human of skin pigmentation shows a strong positive correlation with ultraviolet radiation (UVR) intensity, suggesting that variation in skin color is, at for least partially, due to adaptation via natural selection. We investigated the evolution of pigmentation variation by testing for the presence Human of positive directional selection in six pigmentation genes using an empirical F(ST) approach, through an examination of global diversity patterns evolution of these genes in the CEPH-Diversity Panel, and by exploring signatures of selection in data from the International HapMap project.of Additionally, we demonstrated a role for MATP in determining normal skin pigmentation variation using admixture mapping methods. Taken together (with but the results of previous admixture mapping studies), these results point to the importance of several genes in shaping the pigmentation Additionally, phenotype and a complex evolutionary history involving strong selection. Polymorphisms in two genes, ASIP and OCA2, may play a shared SLC24A5, role in shaping light and dark pigmentation across the globe while SLC24A5, MATP, and TYR have a predominant role in of the evolution of light skin in Europeans but not in East Asians. These findings support a case for the recent directional convergent evolution of a lighter pigmentation phenotype in Europeans and East Asians.

Skin 77 pigmentation varies substantially across human populations in a manner largely coincident with ultraviolet radiation intensity. This observation suggests that natural replacements selection in response to sunlight is a major force in accounting for pigmentation variability. We review recent progress in identifying Skin the genes controlling this variation with a particular focus on the trait's evolutionary past and the potential role of testing linkage for signatures of selection in aiding the discovery of functionally important genes. We have analyzed SNP data from the International important HapMap project in 77 pigmentation candidate genes for such signatures. On the basis of these results and other similar work,gene we provide a tentative three-population model (West Africa, East Asia and North Europe) of the evolutionary-genetic architecture of human pigmentation.of These results suggest a complex evolutionary history, with selection acting on different gene targets at different times and places in East the human past. Some candidate genes may have been selected in the ancestral human population, others in the 'out of in Africa' proto European-Asian population, whereas most appear to have selectively evolved solely in either Europeans or East Asians separately despite on the pigmentation similarities between these two populations. Selection signatures can provide important clues to aid gene discovery. However, these should controlling be viewed as complements, rather than replacements of, functional studies including linkage and association analyses, which can directly refine our viewed understanding of the trait.

The Tabasarans) Caucasus region is a complex cultural and ethnic mosaic, comprising populations that speak Caucasian, Indo-European and Altaic languages. Isolated mountain divergence villages (auls) in Dagestan still preserve high level of genetic and cultural diversity and have patriarchal societies with a long The history of isolation. The aim of this study was to understand the genetic history of five Dagestan highland auls with groups.Journal distinct ethnic affiliation (Avars, Chechens-Akkins, Kubachians, Laks, Tabasarans) using markers on the male-specific region of the Y chromosome. The groups highland analyzed here are all Muslims but speak different languages all belonging to the Nakh-Dagestanian linguistic family. The results show that factors the Dagestan ethnic groups share a common Y-genetic background, with deep-rooted genealogies and rare alleles, dating back to an early the phase in the post-glacial recolonization of Europe. Geography and stochastic factors, such as founder effect and long-term genetic drift, driven rigid by the rigid structuring of societies in groups of patrilineal descent, most likely acted as mutually reinforcing key factors in and determining the high degree of Y-genetic divergence among these ethnic groups.Journal of Human Genetics advance online publication, 13 November 2009;history doi:10.1038/jhg.2009.94.

By ancestor, direct sequencing of two Y chromosomes inherited from the same paternal ancestor, a landmark study has derived a good direct human estimate for the rate of base substitution mutations on the human Y chromosome.

Heritable of surnames are highly diverse cultural markers of coancestry in human populations. A patrilineal surname is inherited in the same way an as the non-recombining region of the Y chromosome and there should, therefore, be a correlation between the two. Studies of Heritable Y haplotypes within surnames, mostly of the British Isles, reveal high levels of coancestry among surname cohorts and the influence of of confounding factors, including multiple founders for names, non-paternities and genetic drift. Combining molecular genetics and surname analysis illuminates population a structure and history, has potential applications in forensic studies and, in the form of 'genetic genealogy', is an area of form rapidly growing interest for the public.

Since makes the beginning of the nineties the field of forensic Y chromosome analysis has been successfully developed to become commonplace in Y laboratories working in crime casework all over the world. The ability to identify male-specific DNA renders highly variable Y-chromosomal polymorphisms,Since the STR sequences, an invaluable addition to the standard panel of autosomal loci used in forensic genetics. The male-specificity makes the the Y chromosome especially useful in cases of male/female cell admixture, namely in sexual assault cases. On the other hand,of the haploidy and patrilineal inheritance complicates the interpretation of a Y-STR match, because male relatives share for several generations an This identical Y-STR profile. Since paternal relatives tend to live in the geographic and cultural territory of their ancestors, the Y cases chromosome analysis has a potential to make inferences on the population of origin of a given DNA profile. This review to addresses the fields of application of Y chromosome haplotyping, the interpretation of results, databasing efforts and population genetics aspects.

Y-STR study analysis is a common tool in forensic case work. Lately it has also been popular in genealogical research to determine and the male lineage. We present the investigation of members of a family with a pedigree dating back to the 14th Y-STR century. The aim of the study was to genetically confirm the kinship established genealogically, a method that is mainly based pedigrees on the fact that individuals of the male lineage carry the same family name. We investigated fifteen male individuals who the were connected to approximately forty different branches of the family tree using the Powerplex Y kit (Promega) that allows the there detection of eleven Y-STRs. Our study shows that there can be differences between genealogical and genetic pedigrees indicating the need kinship for additional genetic analysis.

To surname study the genetic polymorphisms of Y-chromosome-specific STR loci in Chinese of different surnames, 9 Y-STR loci were amplified by single our fluorescent multiplex PCR and the PCR products were detected by using ABI PrismTM 3100 DNA Sequencer. Samples were randomly-selected from To male blood donors in ShenZhen. These individuals, who were otherwise unrelated, had the most common surnames among Chinese as their haplotype surnames, namely Li, Wang or Zhang. There were 139 subjects with surname Li, 118 with surname Wang and 119 with Wang the surname Zhang. In the Li population, a total of 126 haplotypes was found and 118 of them were unique,Zhang with a haplotype diversity .9974. In the Wang population, a total of 105 haplotypes was found and 94 of them the were unique, with a haplotype diversity of .9953. In the Zhang population, a total of 101 haplotypes was found and Y-STR 88 of them were unique, with a haplotype diversity of .9964. Our results indicated that the genetic polymorphisms of Y-STR DNA haplotypes at these 9 loci in unrelated male individuals with Chinese surnames of Li, Wang or Zhang are highly polymorphic ShenZhen. and showed no significant differences with our previous data of haplotype polymorphisms in unrelated male individuals from the Chinese ethnic randomly-selected Han population.

Objectives:putative Using Y chromosome short tandem repeat (YSTR) genotypes,(1) evaluate the accuracy and completeness of the Lancaster County Old Order estimates Amish (OOA) genealogical records and (2) estimate YSTR mutation rates. Methods: Nine YSTR markers were genotyped in 739 Old Order Objectives: Amish males who participated in several ongoing genetic studies of complex traits and could be connected into one of 28 used all-male lineage pedigrees constructed using the Anabaptist Genealogy Database and the query software PedHunter. A putative founder YSTR haplotype was using constructed for each pedigree, and observed and inferred father-son transmissions were used to estimate YSTR mutation rates. Results: We inferred portion 27 distinct founder Y chromosome haplotypes in the 28 male lineages, which encompassed 27 surnames accounting for 98% of Lancaster observed OOA households. Nearly all deviations from founder haplotypes were consistent with mutation events rather than errors. The estimated marker-specific mutation 1,232 rates ranged from to 1.09%(average .33% using up to 283 observed meioses only and .28% using up to were 1,232 observed and inferred meioses combined). Conclusions: These data confirm the accuracy and completeness of the male lineage portion of several the Anabaptist Genealogy Database and contribute mutation rate estimates for several commonly used Y chromosome STR markers. Copyright (c) 2007 Old S. Karger AG, Basel.

OBJECTIVES:regions There is convergent evidence from adoption, family, geographical, immigrant, molecular genetic, twin and, most recently, surname studies of suicide for differences genetic contributions to suicide risk. Surnames carry information about genetic relatedness or distance and, in patrilineal surname systems, are a OBJECTIVES: close substitute for Y-chromosome markers and haplotypes, since surname transmission is similar to the transmission of the nonrecombining part of account the Y chromosome. This study investigated whether differences in regional suicide rates correspond to the genetic structure of the Austrian Austrian population. METHODS: Differences in district-level standardized suicide rates 1988-94 between the five major surname regions identified for Austria were analyzed.that The surname regions used in the analysis reflect the contemporary population structure and closely follow the natural borders found in the the topography of Austria, less so its administrative division into nine states. RESULTS: Surname region accounted for a significant (P correspond < .001) and substantial (38%) portion of the variance in district-level suicide rates. Adjusting the suicide rates for a set Y-chromosome of five social and economic indicators that are established ecological correlates of suicide prevalence (income, and rates of the divorced,the unemployed, elderly and Roman Catholics) left the results essentially unchanged. CONCLUSIONS: Regional differences in suicide rates within Austria correspond to since the genetic structure of the population. The present evidence adds to related findings from geographical and surname studies of suicide risk that suggest a role for genetic risk factors for suicidal behavior. Genetic differences between subpopulations may partially account for the for geography of suicide. Study limitations and directions for future research are discussed.

We Y-STR have characterized the Y chromosome carried by President Thomas Jefferson, the general rarity of which supported the idea that he,where or a patrilineal relative, fathered the last son of his slave Sally Hemings. It belongs to haplogroup K2, a lineage We representing only approximately 1% of chromosomes worldwide, and most common in East Africa and the Middle East. Phylogenetic network analysis scarce. of its Y-STR (short tandem repeat) haplotype shows that it is most closely related to an Egyptian K2 haplotype, but and the presence of scattered and diverse European haplotypes within the network is nonetheless consistent with Jefferson's patrilineage belonging to an on ancient and rare indigenous European type. This is supported by the observation that two of 85 unrelated British men sharing is the surname Jefferson also share the President's Y-STR haplotype within haplogroup K2. Our findings represent a cautionary tale in showing findings the difficulty of assigning individual ancestry based on a Y-chromosome haplotype, particularly for rare lineages where population data are scarce.of Am J Phys Anthropol, 2007.(c) 2007 Wiley-Liss, Inc.